Variant report

Variant	rs73967988
Chromosome Location	chr2:153266604-153266605
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:153260728..153263432-chr2:153264025..153267575,5	MCF-7	breast:
2	chr2:153263868..153266677-chr2:153276487..153278444,2	MCF-7	breast:
3	chr2:153265041..153269898-chr2:153270458..153273464,4	K562	blood:
4	chr1:121483040..121485223-chr2:153265205..153267594,2	MCF-7	breast:
5	chr2:153265232..153268503-chr2:153268822..153271827,3	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10174137	0.95[ASN][1000 genomes]
rs13004473	0.95[ASN][1000 genomes]
rs13004494	0.80[AFR][1000 genomes]
rs13022422	0.83[AFR][1000 genomes]
rs16831007	0.82[AFR][1000 genomes]
rs16831018	0.95[ASN][1000 genomes]
rs16831034	0.85[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs35771051	0.82[AFR][1000 genomes]
rs4664107	0.91[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs4664576	0.89[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs60433007	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6718337	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73967989	0.95[ASN][1000 genomes]
rs7574699	0.83[AFR][1000 genomes]
rs7576568	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834419	chr2:153179420-153381476	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv1005012	chr2:153206764-153273886	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	esv3693436	chr2:153219836-153479857	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv875291	chr2:153251742-153339823	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153247400-153277600	Weak transcription	Fetal Intestine Small	intestine
2	chr2:153252000-153269800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:153257600-153266800	Enhancers	HepG2	liver
4	chr2:153257800-153268200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr2:153261800-153268800	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr2:153263000-153268800	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr2:153263800-153268200	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr2:153264000-153268800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:153264200-153268000	Weak transcription	Fetal Muscle Leg	muscle
10	chr2:153264200-153268400	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr2:153264200-153268800	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr2:153264200-153288200	Weak transcription	Stomach Smooth Muscle	stomach
13	chr2:153264400-153267000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:153264400-153267000	Weak transcription	HUVEC	blood vessel
15	chr2:153264400-153268400	Weak transcription	Rectal Smooth Muscle	rectum
16	chr2:153264400-153269400	Weak transcription	HSMMtube	muscle
17	chr2:153264400-153269600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr2:153264400-153270200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr2:153264400-153271200	Weak transcription	Aorta	Aorta
20	chr2:153264400-153274800	Enhancers	Brain Anterior Caudate	brain
21	chr2:153264400-153278000	Weak transcription	Fetal Kidney	kidney
22	chr2:153264600-153266800	Weak transcription	Adipose Nuclei	Adipose
23	chr2:153264600-153267800	Weak transcription	Small Intestine	intestine
24	chr2:153264600-153268400	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr2:153264600-153269800	Weak transcription	Colon Smooth Muscle	Colon
26	chr2:153264600-153271800	Weak transcription	Right Atrium	heart
27	chr2:153264600-153277200	Enhancers	A549	lung
28	chr2:153265000-153269600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr2:153265200-153266800	Weak transcription	GM12878-XiMat	blood
30	chr2:153265200-153274800	Weak transcription	Fetal Brain Male	brain
31	chr2:153265200-153278000	Weak transcription	Fetal Lung	lung
32	chr2:153265600-153267200	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr2:153265800-153266800	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr2:153265800-153267200	Enhancers	Psoas Muscle	Psoas
35	chr2:153265800-153272000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr2:153266000-153267000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr2:153266000-153267000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr2:153266000-153267200	Enhancers	Gastric	stomach
39	chr2:153266000-153267400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr2:153266000-153267400	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr2:153266000-153267600	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr2:153266000-153268400	Enhancers	H1 Cell Line	embryonic stem cell
43	chr2:153266000-153268600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr2:153266000-153268800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr2:153266000-153268800	Enhancers	Pancreas	Pancrea
46	chr2:153266000-153268800	Enhancers	Hela-S3	cervix
47	chr2:153266000-153269000	Enhancers	HMEC	breast
48	chr2:153266000-153270400	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr2:153266000-153272800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr2:153266000-153278800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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